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Details for CCNF:c.316C>G, p.Leu106Val

CHROMOSOME

16

GENOMIC COORDINATES

hg19	hg38
2485844	2435843

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.316C>G

PROTEIN CHANGE

p.Leu106Val

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
None	None	None	None	None	None

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
1.99e-05	0.0	0.0	0.0	0.0	0.0	4.398e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.842098	Polymorphism

DBSNP ID

1 combination linked to CCNF:c.316C>G, p.Leu106Val

1 disease linked to CCNF:c.316C>G, p.Leu106Val

Amyotrophic lateral sclerosis

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